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Medical Image Analysis|March 23, 2025
Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart diseaseHyeokjin Kwon, Seungyeon Son, Sarah U Morton, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathiesAndrea M Gross, Megan Frone, Karen W Gripp, et al.
Genetics in Medicine Open|October 13, 2025
Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosureJacqueline A Odgis, Sabrina A Suckiel, Laura Golfinopoulos, et al.
Nature Genetics|October 22, 2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndromeRuti Parvari, Eli Hershkovitz, Nili Grossman, et al.
Iscience|January 29, 2025
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impactEnrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, et al.
Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.
Human Molecular Genetics|January 10, 2015
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosusFabiola Quintero-Rivera, Qiongchao J Xi, Kim M Keppler-Noreuil, et al.
Human Mutation|February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna Sarkozy, Claudio Carta, Sonia Moretti, et al.
American Journal of Human Genetics|September 17, 2024
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infantsHadley Stevens Smith, Bethany Zettler, Casie A Genetti, et al.
Circulation. Genomic and Precision Medicine|February 16, 2026
<i>ROBO2</i> Variants Associated With Atrial Septal Defect Define a Novel Regulatory ElementSeong Won Kim, Michael Parfenov, Laura Rodriguez-Murillo, et al.
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